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She had undergone surgery for patent ductus arteriosus and pyloric stenosis in infancy. Her karyotype was 46,XX,der(14) dup(14)(q32.3 q31.3)del(14)(q32.3). Molecular cytogenetic analysis showed a paternally derived 14q31.3\u2010q32.3 duplication and a terminal 14q deletion and led to the correlations between a particular genotype and phenotype. This is the first description of a deletion and inverted duplication of 14q, and adds 14q to the growing list of the inverted duplication associated with a terminal deletion. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30997","type":"journal-article","created":{"date-parts":[[2005,11,16]],"date-time":"2005-11-16T19:56:08Z","timestamp":1132170968000},"page":"146-150","source":"Crossref","is-referenced-by-count":30,"title":["A paternally derived inverted duplication of distal 14q with a terminal 14q 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